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rs104894402

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 4 Deafness mutation (dominant)
Make rs104894402(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position20189359
GeneGJB2
is asnp
is mentioned by
dbSNPrs104894402
dbSNP (old)rs104894402
ClinGenrs104894402
ebirs104894402
HLIrs104894402
Exacrs104894402
Gnomadrs104894402
Varsomers104894402
Maprs104894402
PheGenIrs104894402
Biobankrs104894402
1000 genomesrs104894402
hgdprs104894402
ensemblrs104894402
gopubmedrs104894402
geneviewrs104894402
scholarrs104894402
googlers104894402
pharmgkbrs104894402
gwascentralrs104894402
openSNPrs104894402
23andMers104894402
23andMe allrs104894402
SNP Nexus

SNPshotrs104894402
SNPdbers104894402
MSV3drs104894402
GWAS Ctlgrs104894402
Max Magnitude4
OMIM121011
Desc
Variant0011
Relatedalso
ClinVar
Risk rs104894402(T;T)
Alt rs104894402(T;T)
Reference Rs104894402(C;C)
Significance Pathogenic
Disease Deafness Nonsyndromic hearing loss and deafness
Variation info
Gene GJB2
CLNDBN Deafness, autosomal dominant 3a Nonsyndromic hearing loss and deafness
Reversed 1
HGVS NC_000013.10:g.20763498G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000018535.31, RCV000211763.1,